An experience in prenatal diagnosis via QF-PCR of a female child with a 9.9 Mb pure deletion at 18p11.32-11.22.

Quantitative Fluorescent - Polymerase Chain Reaction (QF-PCR) is a rapid prenatal diagnosis test for 21, 18, 13 and sex chromosomal aneuploidy detection. However, it could not detect partial trisomy or partial monosomy of those chromosomes. Here, we report a 19-month-old Vietnamese female with a 9.9 Mb pure deletion of chromosome 18 at 18p11.32-11.22 confirmed by next generation sequencing. The patient was short statured with facial dysmorphic features as well as motor skill and speech delays. First trimester screening showed high risk of trisomy 21 with only increased nuchal translucency (NT 3.9 mm) by ultrasound as an indication. Prenatal diagnosis by QF-PCR from amniotic DNA revealed normal disomy. Noticeably, two short tandem repeat (STR) markers D18S391 and D18S976 located on 18p exhibited uninformative patterns (one peak). Thus, our case suggested that the combination of both D18S391 and D18S976 markers with uninformative patterns in QF-PCR for prenatal diagnosis and increased NT in the first trimester ultrasound may be a significant indication of 18p monosomy.

Intrahepatic lymphatic channel sclerotic embolization for treatment of postoperative lymphatic ascites: a report of 3 cases.

Postoperative hepatic lymphorrhea is extremely rare and there is no standard treatment for this condition. We report the cases of 3 men, 32-, 56-, and 37-year-old, with postoperative hepatic lymphorrhea, which was refractory to conservative treatment. Transhepatic lymphangiography allowed locating the lymphatic leak and treating it with hepatic lymphatic vessels injection of foam sclerotic agent. This technique seems efficient and safe.

An uncommon therapeutic option for a challenging cause of pleural effusion.

Can you diagnose this challenging cause of pleural effusion? http://bit.ly/2VVwZv3.